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Nuchal Translucency (NT) Scan + Blood Test
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#1 Mum2TwoDSs

Posted 17 April 2012 - 10:12 AM

Hi all, I just had my NT scan @ 13 weeks. The combined result (scan + blood test @10 weeks) concluded that I have almost 1% (1 out of 95 chance) of having a down syndrome baby. The following are my results :

NT (scan) shows baby's fluid at 3.1mm max (normal is 1-3mm)
Blood test shows beta HCG at 2.11 (normal 1)
Blood test shows protein A at 0.96 (normal 1)
My maternal age is 38.

Though tthe results are not appalling, I am really anxious. I am not ready to have a down syndrome baby. We have tried so harrd to conceive this baby.

Is there anyone here who has similar experience/situation?

what are your results like?

Did you opt to do CVS or amniocentesis (diagnostic tests) after your NT test/scan?

How long did the amnio result take to come back?

What was the outcome?

I have at least two friends who had this sort of false alarm and I am hoping mine is as well. I understand that this combined NT screening test is not100% but it is horrible to be subject to worries. I have to wait another 2 weeks for an amnio and then wait for results.

Thanks.!

#2 Bluenomi

Posted 17 April 2012 - 10:22 AM

1 in 95 isn't idea but is far from a bad result. I know people who have gotten 1 in 2 and have had a perfectly healthly baby.

Aminos have a 1 in 100 chance of causing a miscarriage so you need to weigh up if that 1 in 95 chance is enough to risk a 1 in 100 miscarriage.

#3 Mayanme+1

Posted 17 April 2012 - 10:25 AM

Sorry you're having to go through this.

I had an amnio done when I was 38 but can't remember my numbers to compare to yours, sorry.  Don't know about CVS.

But if you choose the amnio and have it done at a private clininc you can pay for an express result which is back in about 72hrs I think.  It was an expensive option but I thought it was all worth it for the peace of mind.

Do you have a counsellor at the hospital to speak to?



#4 Mayanme+1

Posted 17 April 2012 - 10:29 AM

QUOTE (Bluenomi @ 17/04/2012, 10:22 AM) <{POST_SNAPBACK}>
Aminos have a 1 in 100 chance of causing a miscarriage so you need to weigh up if that 1 in 95 chance is enough to risk a 1 in 100 miscarriage.


My research at the time indicated that a lot of that 1 in 100 chance is actually operator error, which is why we opted for the private clinic rather than doing it through the public system.

#5 Mum2TwoDSs

Posted 17 April 2012 - 10:54 AM

Thanks ladies!

I didnt speak much with the counsellor cos well,  i know she wouldnt be empathetic in anyway...she was just passing the information to  me and could not offer anything else. I am sure she is pretty much immune to all this since she probably calls patients every day to tell them such things.

She told me CVS is done about 13 weeks and miscarriage rate is 1:100.  Amnio is done at 15.5 weeks and the rate is 1:200.  We are going with the latter. DH did not want to do the amnio at first, just leave it but after weighing 1:95 for Down Sydrome and 1:200 for miscarriage, we decided we would. I dont think i can survive the rest of my pregnancy with this unknown at the back of my mind.

Thanks bluenoni for your post. The counsellor did say between 1:2 to 1:300, mine is sort of in between, but 1:95 was still freaking me out. I honestly wonder how they work out this risk ratio.

I will opt to get my results asap by paying more cos the waiting is killing me. Thanks for sharing that bit.

#6 spottydog

Posted 17 April 2012 - 12:59 PM

Hi there,

Do you have a private OB you could discuss these questions with or your FS from your IVf clinic?

I was 26 and got 1:152  chance of DS. My NF was fine though, it was just under one mm.

Since i had done IVF i contacted my IVF clinic who told me since i was going private to contact my private OB, to get some info from them. My OB was excellent, he told me what he thought i should do given my personal circumstances.

Did the person doing the scan see any other soft markers for DS? Nasal bone present?

Good luck with your decision, amnio in two weeks and then paying for quicker results could be the way to go.

Sorry you are going through this.

spotty.

#7 Mum2TwoDSs

Posted 17 April 2012 - 01:19 PM

Hi spottydog,

Everything  on the scan was fine and sonographer was pleased with the whole scan. Nasal bone is present. But at 13 weeks we cant tell much I read. Only concern was the nuchal fold was higher in normal range, she took down 3 measurements, 2.71, 2.89 and 3.09 and she put down the largest reading. Yes i will do the amnio and just learnt about this FISH or express results which I certainly will pay for.

#8 TeachmeMum

Posted 17 April 2012 - 01:20 PM

Op my nuchal results were almost identical to yours and I was given a 1:35 I think from memory.

I opted for an amnio (in reality I had no choice but thats a different story) the technician told me it was a 1:200 risk of miscarriage. He was very supportive and ran through the whole procedure with me before hand.

I waited 3 weeks for my results but I went through the public system back then. It came back all clear. I just had a big boofhead daughter on board original.gif

#9 Mum2TwoDSs

Posted 17 April 2012 - 02:39 PM

Thank you Sapere Aude. I am so touched by your post and so happy for you that your girl is fine. How old were you when you had your girl cos I am 38. I think the higher maternal age makes mine higher risk.

#10 MummyIHK

Posted 17 April 2012 - 02:53 PM

Hi,

I had a 1/264 risk and I found this stressful (and that is pretty much boderline), so I can sympathise with you.  

My results were as follows;
Skin Fold Measurement - 2.2mm
HCG - 1.6
Papp-A - .32

I had an amnio done and was given the alll clear, I opted for the FISH results which cost $150 and were back within 24 hours, 110% worth it for the peace of mind.

I found that researching the person who was undertaking the procedure and feeling confident in my decision helped immensly with the stress and tension leading up to and following the procedure.

Good Luck, you will be in my thoughts.

#11 Mum2TwoDSs

Posted 17 April 2012 - 04:48 PM

Thank you mummyHK. A few people mentioned about getting a skilled technician. So i checked with clinic they say it would be done by the director of the ultrasound clinic who is an OB/gynae specialised in US and prenatal diagnosis. That gave me some peace of mind that I will be in good hands. But I will ask again the day before my procedure.

#12 BronE

Posted 25 April 2012 - 09:25 AM

If you are going to have the amnio done in two weeks, there is only one thing that I suggest before that.. You say you are not ready to parent a child with Down Syndrome but have you had anything to do with Down Syndrome.. Within this 2 weeks whilst you are waiting, contact your local DS Association and get put in contact with a parent with a child with DS and see what it is really like.. You might be very surprised about what you see.

I was 38 when I had my last little boofer and at my 12 week scan got a result of 1:39.  We were not going to bother with the amnio because our bubby was wanted and that result would not have changed my mind.. We had it due to my OBG being concerned about some other things she saw.  We had the amnio and paid the extra for the FISH results and his results came back positive that he in fact had Down Syndrome.. Yes I will admit that I cried that day, but I have never cried a day since then over the fact that my little man has Down Syndrome.  He is 2 in a couple of weeks time and is the most beautiful little man..

In most ways he is the same as his other three brothers... he is grumpy, moody, happy, whingy and everything else that any child is.. Yes he has been a bit slower with learning to do things but that is about the only thing that makes him any different to his brothers.

I am more than happy to talk to you as well if you want and can probably put you onto a family near you.. We have a very big network and I know everyone of those families would be more than happy to see you.
I know the decision is a personal one for everyone and I don't look down on people who do choose to terminate, but get some knowledge first before you make that decision.  I guess the other main thing to think about is how you are going to feel if you do terminate.. You say this baby is really wanted.. Are you going to be ok??

Good luck with everything.. feel free to email me if you want to talk or ask anything.  I am an open book : )

#13 Leafprincess

Posted 25 April 2012 - 09:49 AM

My first baby RAF's story:

At the NT scan he was just showing us his bum for the first 15 minutes which we thought was cute.
Then the technician stopped giggling along with us.
There was an issue with his nuchal fold.
The technician got an OB/GYN with qualifications in genetics who was on site to come in.
She looked really serious, I got scared. She took us into the office and expressed her concerns that she suspected the baby had triplodiy (set of three instead of pairs of every chromosome)

The OB/GYn suggested we do a CVS right there and then because it was extremely rare to have a triplody baby at 12 weeks. I was in shock and DP helped guide me and we said yes.

I lay there staring at the ceiling, trying to use deep breathing to calm myself down. I was told not to do that and not to move. The needle was big, I was scared. DP held me hand tighter than you can imagine, he had tears in his eyes. I closed mine and thought of laying in the snow in Canada. I can't remember that it hurt, it felt more like pulling.

The results came back the next day with the bloods to confirm, my OB/GYN explained to me that it was definately triplodiy and that triplody babies are incompatible with life. What a way to describe it, our baby and life didn't match anymore. They suspected I would either miscarry on my own, give birth to a still born or give birth and the baby would suffer innumerable complications and die not long after birth.

DP who is catholic and I then were asked to make a decision, do we D&C or take one of the three other options. I went through a full range of emotions, crying, arguing with God, blaming myself for being a 'bad person' (even though I'm not) and this must be karma. It was the longest 48 hours of my life. I was exhausted.

DP and I agreed we couldn't put our baby through the pain of being born with numerous complications. DP said he couldn't watch me carry a baby and watch it die. We agreed D&C was the only was to go. The NT scan was on a Wednesday. The OB/GYN performed the surgery on the Satruday- he did this so my parents could be with me as they were interstate. He was a really good doctor.

I felt empty for a while,then got the stage of acceptance and that sometimes things like this happen for no reason. It is just life. About 6 months later I found out I was pregnant again, Tiger is what we referred tithe baby as, at the 8 weeks scan he didn't have a heart beat. Another D&C was performed, we had genetic testing done and he too had triplodiy.

With this baby, I will have to have CVS done at the NT scan,because to have one baby with triplody is rare, to have two even rarer.

CVS doesn't hurt, you just have to lay still,the decisions that may arise afterwards is what hurts.

#14 MrsWidget

Posted 25 April 2012 - 10:07 AM

I'm sorry you are in this position.

Just a comment about FISH results. Yes they come back quicker but please be aware that they only test for 3 common chromosomal abnormalities and the sex. You will need to wait for the full results (which take 1-2 weeks) for the all clear. In most instances an all clear FISH will also give good full results but not always.

#15 nel15

Posted 25 April 2012 - 10:09 AM

Just remember a Nuchal Fold is only testing for Down's Syndrome, what about all the other genetic defects??

#16 BronE

Posted 25 April 2012 - 11:29 AM

Yipfazel, I cannot even fathom how you must have felt going through all that.. my heart breaks for you.. everything crossed for you that this time you get the baby you deserve.

I was told that the FISH results actually bring back 7 of the most common abnormalities..

nel15, That's the thing, if we all panicked about genetic defects in our children, no one would ever fall pregnant.  As my Paed said to me "if you have to have a disability Down Syndrome is the one to have".. Alot of peoples ideas on what DS is like are very outdated.  That's why learning about it is such a vital thing to do before considering terminating one.

#17 Hoping4anAddition

Posted 25 April 2012 - 06:03 PM

I have to agree with BronE. Do some research before you have your test to see what you might be up against. I would never terminate a DS baby because I know they are such beautiful happy people who can lead great lives. It's obviously a personal decision but if you haven't worked with or dealt with a DS child or adult you probably don't have enough info I make an informed choice. Rather than amino why don't you get your ultrasound and bloods again first? There are many instances of errors for both, maybe a second will give you a lower more acceptable risk? I was told by an FS I likely had uterine cancer, instead of opting for surgery as suggested I requested another US and got the all clear. The amount of time doctors have been wrong in my life is astounding!I think that we get given too much information these days and it makes us Even more stressed! I know the more I knew about how my cycles were progressing or not the more worried I got. I'm getting my nt scan and bloods but the bloods are to keep my dr happy and the scan is so I can see bubs again and hear its heartbeat. I don't really want to know my odds. I know that once I have a number I will need even more info.Good luck with further testing and any results you get!

#18 splatthecat

Posted 25 April 2012 - 06:30 PM

The 1 in 95 risk factors in the blood test, the ultrasound and maternal age.
Amniocentesis and CVS sampling involve putting a needle thru the uterus. Even with the best operator there will always be a risk of miscarriage. which will be between 1 in 100 to 1 in 200.
Only you can decide which of those 2 odds scares you more (child with downs or miscarriage) as the odds of both are about the same (1%)

#19 wallofdodo

Posted 25 April 2012 - 06:59 PM

QUOTE (Mum2OneDS @ 17/04/2012, 10:54 AM) <{POST_SNAPBACK}>
Thanks ladies!

I didnt speak much with the counsellor cos well,  i know she wouldnt be empathetic in anyway...she was just passing the information to  me and could not offer anything else. I am sure she is pretty much immune to all this since she probably calls patients every day to tell them such things.


Hi, I found the genetic counsellors to be a great help. yes they do give the facts, but they re there to help you with the other stuff.

QUOTE (nel15 @ 25/04/2012, 10:09 AM) <{POST_SNAPBACK}>
Just remember a Nuchal Fold is only testing for Down's Syndrome, what about all the other genetic defects??


I am not sure what you are saying here. The screening is for the three main trisomies. Further testing is for a whole lot more.


Good luck with what you decide to do OP it is a tough time. make sure you know what you really want to do.


#20 whatnamenow

Posted 25 April 2012 - 07:12 PM

It also wont predict for every genetic abnormality.  You could get a clear result but still end up with a child with a genetic abnormality that hasnt been tested for.

#21 suline

Posted 25 April 2012 - 08:27 PM

QUOTE (nel15 @ 25/04/2012, 10:09 AM)
Just remember a Nuchal Fold is only testing for Down's Syndrome, what about all the other genetic defects??

No, it isn't JUST for Down's Syndrome.. It also covers:

Turner syndrome
Trisomy 13
Trisomy 18
Triploidy (as Yipfazel mentioned)
And other defects with normal chromosomes, but a thicker nuchal translucency is associated with other fetal defects and genetic syndromes. (such as some cardiac abnormalities).

Also it is not TESTING for these syndromes, it is a screening tool. You are only given a risk ratio, not an absolute yes or no result.

Edited by suline, 28 April 2012 - 01:01 PM.


#22 Mum2TwoDSs

Posted 02 May 2012 - 12:33 PM

Hi everyone,

I just want to thank each of you for your contributing posts that really helped me prepare for this amnio, about getting the FISH results and getting a really experienced doctor for the procedure.

We finally did our amnio yesterday at 15weeks3day, it was not really painful but really uncomfortable, like this worm digging into my guts and then pulling out...but the doctor was really good, his words made me feel like I was the bravest woman in the world. I had a little cry and came back resting lots.

Today we got our FISH results, meant to be tml but DH couldnt wait and called the lab. The technician somehow thought he was the doc and told him WE ARE ALL CLEAR for trisomy 13, 18 and 21. The genetic counsellor he spoke to thereafter also confirmed it. And we are having a baby boy!!! We are so over the moon, so happy to receive this result after two weeks of hell. I finally can enjoy my pregnancy!

Thanks so much again ladies!!!



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